Congenital heart disease, genetic syndromes, and major noncardiac malformations

Unolt, Marta; Putotto, Carolina; Marino, Dario

doi:10.1007/s00431-012-1838-x

Cited by 1 publication

(1 citation statement)

References 3 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…trisomy of chromosome 21), as well as chromosomal microdeletions (e.g. DiGeorge syndrome), may all interfere with this process, thus leading to CHD or even miscarriage in some cases (4)(5)(6). The genetic etiology of CHD has been studied extensively over the last decade; a number of germ line mutations in cardiac transcription factors (7-13), including NK2 homeobox 5 (NKX2-5) (11,14), GATA binding protein 4 (GATA4) (15)(16)(17), T-box 20 (18), and Notch1 (19) have been validated.…”

Section: Introductionmentioning

confidence: 99%

Exome sequencing reveals novel IRXI mutation in congenital heart disease

Guo¹,

Wang²,

Wang

et al. 2017

Molecular Medicine Reports

View full text Add to dashboard Cite

Genetic variation in specific transcription factors during heart formation may lead to congenital heart disease (CHD) or even miscarriage. The aim of the present study was to identify CHD‑associated genes using next generation sequencing (NGS). The whole exome DNA sequence was obtained from a stillborn fetus diagnosed with tricuspid atresia and complete transposition of the great arteries using high‑throughput sequencing methods. Subsequently, genetic variants of CHD‑associated genes were selected and verified in 215 non‑syndromic CHD patients and 249 healthy control subjects using polymerase chain reaction combined with Sanger sequencing. Genetic variants of previously reported CHD‑inducing genes, such as cysteine rich with EGF like domains 1 and cbp/p300‑interacting transactivator with Glu/Asp rich carboxy‑terminal domain 2, were discovered through the NGS analysis. In addition, a novel non‑synonymous mutation of the iroquois homeobox 1 (IRX1) gene (p.Gln240Glu) was identified. A total of three non‑synonymous mutations (p.Gln240Glu, p.Ser298Asn and p.Ala381Glu) of the IRX1 gene were verified in 215 non‑syndromic CHD patients, but not in 249 healthy volunteers. The results demonstrated that NGS is a powerful tool to study the etiology of CHD. In addition, the results suggest that genetic variants of the IRX1 gene may contribute to the pathogenesis of CHD.

show abstract